ClinVar

NM_145799.4(SEPTIN6):c.843C>T (p.Val281=)

Gene:

SEPTIN6:septin 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq24

Genomic location:

• ChrX: 119637140 (on Assembly GRCh38)
• ChrX: 118771103 (on Assembly GRCh37)

Preferred name:

NM_145799.4(SEPTIN6):c.843C>T (p.Val281=)

HGVS:

• NC_000023.11:g.119637140G>A
• NG_012565.1:g.61231C>T
• NM_001410710.1:c.843C>T
• NM_015129.6:c.843C>T
• NM_145799.4:c.843C>TMANE SELECT
• NM_145800.4:c.843C>T
• NM_145802.4:c.843C>T
• NP_001397639.1:p.Val281=
• NP_055944.2:p.Val281=
• NP_665798.1:p.Val281=
• NP_665799.1:p.Val281=
• NP_665801.1:p.Val281=
• NC_000023.10:g.118771103G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001410710.1:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015129.6:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145799.4:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145800.4:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145802.4:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1